• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.263-267
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• 2017

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.

• Parasites, Hosts and Diseases
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• v.52 no.2
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• pp.189-191
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• 2014

Visceral leishmaniasis or kala-azar is an endemic parasitic disease in some parts of the world which is characterized by fever, splenomegaly, and pancytopenia in most of the cases. Herein we report an 11 month-old male infant with diagnosis of kala-azar who presented with pallor, hepatosplenomegaly, failure to gain weight, and no history of fever. Surprisingly, fever started after beginning of meglumine antimoniate treatment in this patient. As far as we are aware of, this is a rare presentation of visceral leishmaniasis. Therefore, clinicians especially in endemic areas are highly recommended to include kala-azar among differential diagnosis of unexplained anemia without fever to prevent misdiagnosis of this potentially fatal, but treatable condition.

• Parasites, Hosts and Diseases
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• v.22 no.1
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• pp.72-77
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• 1984

A case of congenital malaria infection has been studied in a 46-day old female Korean infant. Her mother suffered from malaria infection during pregnancy in Uppervolta, Africa, and returned to Korea at the 9th month of gestation for delivery. At 39 days of age, the clinical features characterized by fever, irritability, pallor, jaundice and hepatosplenomegaly were developed. The laboratory data revealed a hemolytic anemia with thronbocytopenia, hyperbilirubinemia and increased hepatic enzyme values. A peripheral blood smear demonstrated intraerythrocytic malarial parasites and gametocytes of Plasmodium falciparum. She was successfully treated with quinine solfate (25mg/kg/day in three doses for 5 days) and trimethoprimejsulfamethoxazole (8mg/kg/day in two doses for 5 days) orally, and repeated blood smear had been negative for malaria. This report also signifies the first description of congenital malaria in Korea imported from Uppervolta in Africa. A brief review of related literature was made.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.278-281
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• 2009

Bilateral renal enlargement is a very rare manifestation as the primary presenting feature of acute lymphoblastic leukemia. We are reporting an unusual clinical picture of a 9-month-old male patient diagnosed as precusor B-cell lymphoblastic leukemia, who showed bilateral nephromegaly without any hepatosplenomegaly at the time of initial presentation.

• Korean Journal of Veterinary Research
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• v.48 no.3
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• pp.363-367
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• 2008

A 4-year-old female Cocker spaniel was presented with respiratory distress and abdominal distension. Pleural effusion, ascites, hepatosplenomegaly, and superficial lymphadenopathy were observed and multicentric lymphoma was diagnosed by cytological examination. Immunophenotyping of lymph node and bone marrow using polymerase chain reaction for antigen receptor rearrangement identified a stage V lymphoma originating from T-cell. Despite of systemic chemotherapy using L-asparagenase, vincristine, cyclophoaphamide and prednisolone, neurologic deficits came out and progressed. Cerebrospinal fluid analysis revealed neoplastic lymphocytic pleocytosis indicating central nervous system involvement of lymphoma. The postmortem diagnosis was confirmed based on the histology and imunohistochemistry.

• Parasites, Hosts and Diseases
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• v.50 no.2
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• pp.133-136
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• 2012

Visceral leishmaniasis (VL) is a life-threatening infection caused by Leishmania species. In addition to typical clinical findings as fever, hepatosplenomegaly, and cachexia, VL is associated with autoimmune phenomena. To date, VL mimicking or exacerbating various autoimmune diseases have been described, including systemic lupus erythematosus (SLE), rheumatoid arthritis, and autoimmune hepatitis (AIH). Herein, we presented a patient with VL who had overlapping clinical features with SLE, AIH, as well as antimitochondrial antibody (AMA-M2) positive primary biliary cirrhosis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.98-101
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• 2004

Congenital hepatic fibrosis is an inherited, congenital disorder of the liver characterized by portal hypertension and hepatic fibrosis. We experienced a case of congenital hepatic fibrosis with esophageal varix in a 9-year-old male. He complained hematemesis, hematochezia, dizziness. In laboratory examination, AST/ALT was slightly increased. Esophageal varix was noted by an endoscopic examination. Hepatosplenomegaly and hypoechoic lesion of periportal area were seen by abdominal CT scanning. Histologic finding of liver biopsy showed fibrous tracts containing dilated bile ductules connecting adjacent portal spaces that were widened by mature fibrosis. Endocopic sclerotherpy and ligation was done. We summarized a case with review of literatures

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.4
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• pp.361-364
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• 2018

Accessory hepatic lobe is noted as and considered a rare disease in children. It can manifest with various symptoms and complications depending on the location, volume, type and position of the disease as presented on a child. The patient presented as a 14-month-old girl who was seen with a notable hepatosplenomegaly and portal hypertension. A diagnosis was made after taking an extensive medical history, observation and radiological examinations. The formal diagnosis was a prehepatic portal hypertension associated with accessory hepatic lobe.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.68-71
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• 2016

Infectious mononucleosis is Epstein-Barr virus (EBV) inducing a self-limiting clinical syndrome characterized by fever, sore throat, hepatosplenomegaly, and generalized lymphadenopathy. Gastrointestinal symptoms of EBV infection are nonspecific and occur rarely. EBV inducing acute gastrointestinal pathology is poorly recognized without suspicion. Careful consideration is needed to diagnose gastric involvement of EBV infection including gastric lymphoma, gastric cancer, and gastritis. A few recent cases of gastritis associated with EBV infection have been reported in adolescents and adults. However, there is no report of EBV-associated gastritis in early childhood. We experienced a rare case of 4-year-old girl with EBV gastritis confirmed by in situ hybridization.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.42-47
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• 2014

Gaucher disease is a multisystemic disorder arising from a deficient activity of the lysosomal enzyme glucocerebrosidase, which leads to accumulation of glycosylceraide and other glycolipids in the regiculoendothelial system. The characteristics of Gaucher disease are anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. Enzyme replacement therapy (ERT) has been proven to prevent progressive manifestations of Gaucher disease and effective in improving anemia, thrombocytopenia, bone markers and biomarkers. However, some patient needs still remain unmet because of the inaccessibility of certain sites including brain, bone and various organs. ERT could not Improve the irreversible lesion such as liver fibrosis, hepatopulmonary syndrome, and necrosis or infarction of bone and other organs. Adult patients with Gaucher disease should be screened for longterm complication such as bone disease, pulmonary hypertension, gallstone, and cancer, especially in patients with splenectomy. Parkinsonism and polyneuropathy was also reported among patients with type 1 Gaucher disease, but ERT does not improve neurological function. We need to review the benefits and unmet needs of ERT in Gaucher disease.